HistoryThis section has been translated automatically.
Haddad et al. 1999
Occurrence/EpidemiologyThis section has been translated automatically.
Rare; only a few families have been described worldwide.
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EtiopathogenesisThis section has been translated automatically.
PCSK9 (Proproteinconvertase subtilisin-like kexin type 9) is a serine protease that mediates the proteasomal degradation of LDL receptors. PCSK9 binds to the LDL-receptor (LDL-R) and is taken up by liver cells in increased amounts. Binding to PCSK9 promotes endocytosis and the degradation of the LDL receptor in endosomes. Thus, fewer LDL-receptors are available for recirculation to the cell surface. As a result, the binding of LDL cholesterol decreases.
Mutations in the PCSK9 gene lead to a pathologically increased PCSK9 activity and to an increased degradation of LDL receptors (LDL=low density lipoproteins) and thus to an increase of LDL in plasma.
The humanized antibody Evolocumab specifically binds serum PCSK9, thereby preventing the formation of LDL-receptor-PCSK9 complexes and the intracellular degradation of the LDL receptor. Thus, increased LDL cholesterol can be absorbed by the LDL receptors and then degraded intracellularly.
Clinical featuresThis section has been translated automatically.
The clinical course corresponds to the autosomal dominant familial hypercholesterolemia with LDL-receptor defects (see there).
TherapyThis section has been translated automatically.
PCSK9 inhibitors such as evolocumab
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.